Principles of Genetics

Principles of Genetics......Page 1
Title Page......Page 2
Copyright......Page 3
About the Authors......Page 4
Goals......Page 5
Pedagogy of the Sixth Edition......Page 6
Online Resources......Page 8
Acknowledgments......Page 9
Contents......Page 10
The Personal Genome......Page 20
MENDEL: GENES AND THE RULES OF INHERITANCE......Page 21
WATSON AND CRICK: THE STRUCTURE OF DNA......Page 22
THE HUMAN GENOME PROJECT: SEQUENCING DNA AND CATALOGUING GENES......Page 23
DNA REPLICATION: PROPAGATING GENETIC INFORMATION......Page 25
GENE EXPRESSION: USING GENETIC INFORMATION......Page 26
MUTATION: CHANGING GENETIC INFORMATION......Page 28
Genetics and Evolution......Page 29
MOLECULAR GENETICS......Page 30
GENETICS IN AGRICULTURE......Page 31
GENETICS IN MEDICINE......Page 33
GENETICS IN SOCIETY......Page 34
Dolly......Page 37
THE CELLULAR ENVIRONMENT......Page 38
CHROMOSOMES: WHERE GENES ARE LOCATED......Page 39
CELL DIVISION......Page 42
Mitosis......Page 43
MEIOSIS I......Page 46
SOLVE IT How Many Chromosome Combinations in Sperm......Page 50
SACCHAROMYCES CEREVISIAE, BAKER’S YEAST......Page 51
ARABIDOPSIS THALIANA, A FAST-GROWING PLANT......Page 52
MUS MUSCULUS, THE MOUSE......Page 53
PROBLEM-SOLVING SKILLS Counting Chromosomes and Chromatids......Page 55
The Birth of Genetics: A Scientific Revolution......Page 59
MENDEL’S EXPERIMENTAL ORGANISM, THE GARDEN PEA......Page 60
MONOHYBRID CROSSES: THE PRINCIPLES OF DOMINANCE AND SEGREGATION......Page 61
DIHYBRID CROSSES: THE PRINCIPLE OF INDEPENDENT ASSORTMENT......Page 63
THE FORKED-LINE METHOD......Page 65
THE PROBABILITY METHOD......Page 66
Testing Genetic Hypotheses......Page 67
THE CHI-SQUARE TEST......Page 69
Mendelian Principles in Human Genetics......Page 71
PEDIGREES......Page 72
GENETIC COUNSELING......Page 73
PROBLEM-SOLVING SKILLS Making Predictions from Pedigrees......Page 75
Genetics Grows Beyond Mendel’s Monastery Garden......Page 81
INCOMPLETE DOMINANCE AND CODOMINANCE......Page 82
MULTIPLE ALLELES......Page 83
TESTING GENE MUTATIONS FOR ALLELISM......Page 84
VARIATION AMONG THE EFFECTS OF MUTATIONS......Page 85
GENES FUNCTION TO PRODUCE POLYPEPTIDES......Page 86
WHY ARE SOME MUTATIONS DOMINANT AND OTHERS RECESSIVE?......Page 87
ENVIRONMENTAL EFFECTS ON THE EXPRESSION OF HUMAN GENES......Page 89
PENETRANCE AND EXPRESSIVITY......Page 90
EPISTASIS......Page 91
PLEIOTROPY......Page 94
PROBLEM-SOLVING SKILLS Going from Pathways to Phenotypic Ratios......Page 95
THE EFFECTS OF INBREEDING......Page 96
GENETIC ANALYSIS OF INBREEDING......Page 97
SOLVE IT Compound Inbreeding......Page 100
MEASURING GENETIC RELATIONSHIPS......Page 101
Sex, Chromosomes, and Genes......Page 108
SEX CHROMOSOMES......Page 109
EXPERIMENTAL EVIDENCE LINKING THE INHERITANCE OF GENES TO CHROMOSOMES......Page 111
NONDISJUNCTION AS PROOF OF THE CHROMOSOME THEORY......Page 112
SOLVE IT Sex Chromosome Nondisjunction......Page 114
PROBLEM-SOLVING SKILLS Tracking X-Linked and Autosomal Inheritance......Page 116
COLOR BLINDNESS, AN X-LINKED VISION DISORDER......Page 117
Sex Chromosomes and Sex Determination......Page 119
SEX DETERMINATION IN HUMANS......Page 120
SEX DETERMINATION IN OTHER ANIMALS......Page 121
INACTIVATION OF X-LINKED GENES IN FEMALE MAMMALS......Page 123
Chromosomes, Agriculture, and Civilization......Page 129
ANALYSIS OF MITOTIC CHROMOSOMES......Page 130
THE HUMAN KARYOTYPE......Page 132
CYTOGENETIC VARIATION: AN OVERVIEW......Page 133
STERILE POLYPLOIDS......Page 134
FERTILE POLYPLOIDS......Page 135
TISSUE-SPECIFIC POLYPLOIDY AND POLYTENY......Page 136
Aneuploidy......Page 138
TRISOMY IN HUMANS......Page 139
MONOSOMY......Page 140
FOCUS ON Amniocentesis and Chorionic Biopsy......Page 142
DELETIONS AND DUPLICATIONS OF CHROMOSOME SEGMENTS......Page 143
INVERSIONS......Page 145
TRANSLOCATIONS......Page 146
COMPOUND CHROMOSOMES AND ROBERTSONIAN TRANSLOCATIONS......Page 147
SOLVE IT Pollen Abortion in Translocation Heterozygotes......Page 148
The World’s First Chromosome Map......Page 154
EARLY EVIDENCE FOR LINKAGE AND RECOMBINATION......Page 155
CROSSING OVER AS THE PHYSICAL BASIS OF RECOMBINATION......Page 157
EVIDENCE THAT CROSSING OVER CAUSES RECOMBINATION......Page 158
CHIASMATA AND THE TIME OF CROSSING OVER......Page 159
RECOMBINATION MAPPING WITH A TWO-POINT TESTCROSS......Page 160
RECOMBINATION MAPPING WITH A THREE-POINT TESTCROSS......Page 161
SOLVE IT Mapping Two Genes with Testcross Data......Page 162
RECOMBINATION FREQUENCY AND GENETIC MAP DISTANCE......Page 165
LOCALIZING GENES USING DELETIONS AND DUPLICATIONS......Page 167
GENETIC DISTANCE AND PHYSICAL DISTANCE......Page 168
Linkage Analysis in Humans......Page 169
SUPPRESSION OF RECOMBINATION BY INVERSIONS......Page 172
GENETIC CONTROL OF RECOMBINATION......Page 174
Multi-Drug-Resistant Bacteria: A Ticking Timebomb?......Page 182
Viruses and Bacteria in Genetics......Page 183
BACTERIOPHAGE T4......Page 184
BACTERIOPHAGE LAMBDA......Page 185
The Genetics of Bacteria......Page 188
MUTANT GENES IN BACTERIA......Page 189
UNIDIRECTIONAL GENE TRANSFER IN BACTERIA......Page 190
Mechanisms of Genetic Exchange in Bacteria......Page 191
TRANSFORMATION......Page 192
CONJUGATION......Page 194
PLASMIDS AND EPISOMES......Page 198
PROBLEM-SOLVING SKILLS Mapping Genes Using Conjugation Data......Page 199
F’ FACTORS AND SEXDUCTION......Page 200
TRANSDUCTION......Page 201
SOLVE IT How Can You Map Closely Linked Genes Using Partial Diploids......Page 202
ON THE CUTTING EDGE Antibiotic-Resistant Bacteria......Page 205
Discovery of Nuclein......Page 211
Proof That Genetic Information Is Stored in DNA......Page 212
PROOF THAT DNA MEDIATES TRANSFORMATION......Page 213
PROOF THAT DNA CARRIES THE GENETIC INFORMATION IN BACTERIOPHAGE T2......Page 214
The Structures of DNA and RNA......Page 216
NATURE OF THE CHEMICAL SUBUNITS IN DNA AND RNA......Page 217
DNA STRUCTURE: THE DOUBLE HELIX......Page 218
PROBLEM-SOLVING SKILLS Calculating Base Content in DNA......Page 221
SOLVE IT What Are Some Important Features of Double-Stranded DNA?......Page 222
DNA STRUCTURE: NEGATIVE SUPERCOILS IN VIVO......Page 223
Chromosome Structure in Prokaryotes and Viruses......Page 224
CHEMICAL COMPOSITION OF EUKARYOTIC CHROMOSOMES......Page 226
THREE LEVELS OF DNA PACKAGING IN EUKARYOTIC CHROMOSOMES......Page 227
SOLVE IT How Many Nucleosomes in One Human X Chromosome......Page 229
CENTROMERES AND TELOMERES......Page 230
REPEATED DNA SEQUENCES......Page 233
ON THE CUTTING EDGE The 1000 Genomes Project......Page 235
Monozygotic Twins: Are They Identical?......Page 239
SEMICONSERVATIVE REPLICATION......Page 240
UNIQUE ORIGINS OF REPLICATION......Page 243
PROBLEM-SOLVING SKILLS Predicting Patterns of 3H Labeling in Chromosomes......Page 245
VISUALIZATION OF REPLICATION FORKS BY AUTORADIOGRAPHY......Page 246
BIDIRECTIONAL REPLICATION......Page 247
FOCUS ON DNA Synthesis In Vitro......Page 250
COVALENT CLOSURE OF NICKS IN DNA BY DNA LIGASE......Page 251
INITIATION OF DNA CHAINS WITH RNA PRIMERS......Page 253
UNWINDING DNA WITH HELICASES, DNA-BINDING PROTEINS, AND TOPOISOMERASES......Page 255
MULTIPLE DNA POLYMERASES AND PROOFREADING......Page 257
THE PRIMOSOME AND THE REPLISOME......Page 261
ROLLING-CIRCLE REPLICATION......Page 262
Unique Aspects of Eukaryotic Chromosome Replication......Page 263
MULTIPLE REPLICONS PER CHROMOSOME......Page 264
TWO OR MORE DNA POLYMERASES AT A SINGLE REPLICATION FORK......Page 265
DUPLICATION OF NUCLEOSOMES AT REPLICATION FORKS......Page 266
TELOMERASE: REPLICATION OF CHROMOSOME TERMINI......Page 267
TELOMERE LENGTH AND AGING IN HUMANS......Page 268
Storage and Transmission of Information with Simple Codes......Page 275
TRANSCRIPTION AND TRANSLATION......Page 276
FIVE TYPES OF RNA MOLECULES......Page 277
AN mRNA INTERMEDIARY......Page 278
GENERAL FEATURES OF RNA SYNTHESIS......Page 280
PROBLEM-SOLVING SKILLS Distinguishing RNAs Transcribed from Viral and Host DNAs......Page 281
RNA POLYMERASES: COMPLEX ENZYMES......Page 282
ELONGATION OF RNA CHAINS......Page 283
TERMINATION OF RNA CHAINS......Page 284
CONCURRENT TRANSCRIPTION, TRANSLATION, AND mRNA DEGRADATION......Page 285
FIVE RNA POLYMERASES/FIVE SETS OF GENES......Page 286
ON THE CUTTING EDGE Chromatin Remodeling and Gene Expression......Page 288
SOLVE IT Initiation of Transcription by RNA Polymerase II in Eukaryotes......Page 289
RNA CHAIN ELONGATION AND THE ADDITION OF 5’ METHYL GUANOSINE CAPS......Page 290
TERMINATION BY CHAIN CLEAVAGE AND THE ADDITION OF 3’ POLY(A) TAILS......Page 291
RNA EDITING: ALTERING THE INFORMATION CONTENT OF mRNA MOLECULES......Page 292
Interrupted Genes in Eukaryotes: Exons and Introns......Page 293
INTRONS: BIOLOGICAL SIGNIFICANCE?......Page 295
Removal of Intron Sequences by RNA Splicing......Page 296
AUTOCATALYTIC SPLICING......Page 297
PRE-mRNA SPLICING: snRNAs, snRNPs, AND THE SPLICEOSOME......Page 298
Sickle-Cell Anemia: Devastating Effects of a Single Base-Pair Change......Page 304
POLYPEPTIDES: TWENTY DIFFERENT AMINO ACID SUBUNITS......Page 305
PROTEINS: COMPLEX THREE-DIMENSIONAL STRUCTURES......Page 306
BEADLE AND TATUM: ONE GENE—ONE ENZYME......Page 308
COLINEARITY BEWEEN THE CODING SEQUENCE OF A GENE AND ITS POLYPEPTIDE PRODUCT......Page 310
OVERVIEW OF PROTEIN SYNTHESIS......Page 312
COMPONENTS REQUIRED FOR PROTEIN SYNTHESIS: RIBOSOMES......Page 313
COMPONENTS REQUIRED FOR PROTEIN SYNTHESIS: TRANSFER RNAs......Page 315
TRANSLATION: THE SYNTHESIS OF POLYPEPTIDES USING mRNA TEMPLATES......Page 317
SOLVE IT Control of Translation in Eukaryotes......Page 323
THREE NUCLEOTIDES PER CODON......Page 325
DECIPHERING THE CODE......Page 326
INITIATION AND TERMINATION CODONS......Page 328
A DEGENERATE AND ORDERED CODE......Page 329
PROBLEM-SOLVING SKILLS Predicting Amino Acid Substitutions Induced by Mutagens......Page 330
RECOGNITION OF CODONS BY tRNAs: THE WOBBLE HYPOTHESIS......Page 331
SUPPRESSOR MUTATIONS THAT PRODUCE tRNAs WITH ALTERED CODON RECOGNITION......Page 332
SOLVE IT Effects of Base-Pair Substitutions in the Coding Region of the HBB Gene......Page 333
ON THE CUTTING EDGE Selenocysteine, the 21st Amino Acid......Page 334
Xeroderma Pigmentosum: Defective Repair of Damaged DNA in Humans......Page 339
The Molecular Basis of Mutation......Page 340
SOLVE IT Nucleotide-Pair Substitutions in the Human HBB Gene......Page 342
INDUCED MUTATIONS......Page 343
MUTATIONS INDUCED BY CHEMICALS......Page 345
MUTATIONS INDUCED BY RADIATION......Page 347
PROBLEM-SOLVING SKILLS Predicting Amino Acid Changes Induced by Chemical Mutagens......Page 348
EXPANDING TRINUCLEOTIDE REPEATS AND INHERITED HUMAN DISEASES......Page 350
MUTATION: SOMATIC OR GERMINAL......Page 351
MUTATION: USUALLY A RANDOM, NONADAPTIVE PROCESS......Page 352
MUTATION: A REVERSIBLE PROCESS......Page 354
MUTATIONS WITH PHENOTYPIC EFECTS: USUALLY DELETERIOUS AND RECESSIVE......Page 356
EFFECTS OF MUTATIONS IN HUMAN GLOBIN GENES......Page 357
MUTATION IN HUMANS: BLOCKS IN METABOLIC PATHWAYS......Page 358
CONDITIONAL LETHAL MUTATIONS: POWERFUL TOOLS FOR GENETIC STUDIES......Page 359
Assigning Mutations to Genes by the Complementation Test......Page 361
SOLVE IT How Can You Assign Mutations to Genes?......Page 363
Screening Chemicals for Mutagenicity: The Ames Test......Page 365
EXCISION REPAIR......Page 367
OTHER DNA REPAIR MECHANISMS......Page 368
Inherited Human Diseases with Defects in DNA Repair......Page 370
RECOMBINATION: CLEAVAGE AND REJOINING OF DNA MOLECULES......Page 373
GENE CONVERSION: DNA REPAIR SYNTHESIS ASSOCIATED WITH RECOMBINATION......Page 375
Treatment of Pituitary Dwarfism with Human Growth Hormone......Page 385
Basic Techniques Used to Identify, Amplify, and Clone Genes......Page 386
THE DISCOVERY OF RESTRICTION ENDONUCLEASES......Page 387
THE PRODUCTION OF RECOMBINANT DNA MOLECULES IN VITRO......Page 390
AMPLIFICATION OF RECOMBINANT DNA MOLECULES IN CLONING VECTORS......Page 391
AMPLIFICATION OF DNA SEQUENCES BY THE POLYMERASE CHAIN REACTION (PCR)......Page 393
CONSTRUCTION OF GENOMIC LIBRARIES......Page 396
SCREENING DNA LIBRARIES FOR GENES OF INTEREST......Page 397
The Molecular Analysis of DNA, RNA, and Protein......Page 399
ANALYSIS OF DNAs BY SOUTHERN BLOT HYBRIDIZATIONS......Page 400
ANALYSIS OF RNAs BY NORTHERN BLOT HYBRIDIZATIONS......Page 401
FOCUS ON Detection of a Mutant Gene Causing Cystic Fibrosis......Page 402
ANALYSIS OF PROTEINS BY WESTERN BLOT TECHNIQUES......Page 403
PHYSICAL MAPS OF DNA MOLECULES BASED ON RESTRICTION ENZYME CLEAVAGE SITES......Page 405
NUCLEOTIDE SEQUENCES OF GENES AND CHROMOSOMES......Page 406
PROBLEM-SOLVING SKILLS Determining the Nucleotide Sequences of Genetic Elements......Page 409
The Neanderthal Genome: What It Reveals about Our Ancestors......Page 416
FOCUS ON GenBank......Page 419
Correlated Genetic, Cytological, and Physical Maps of Chromosomes......Page 421
RESTRICTION FRAGMENT-LENGTH POLYMORPHISM (RFLP) AND SHORT TANDEM REPEAT (STR) MAPS......Page 422
PHYSICAL MAPS AND CLONE BANKS......Page 424
Map Position-Based Cloning of Genes......Page 426
CHROMOSOME WALKS AND JUMPS......Page 427
MAPPING THE HUMAN GENOME......Page 428
SEQUENCING THE HUMAN GENOME......Page 429
THE HUMAN HAPMAP PROJECT......Page 433
RNA and Protein Assays of Genome Function......Page 434
MICROARRAYS AND GENE CHIPS......Page 435
THE GREEN FLUORESCENT PROTEIN AS A REPORTER OF PROTEIN SYNTHESIS......Page 438
Comparative Genomics......Page 439
BIOINFORMATICS......Page 440
PROBLEM-SOLVING SKILLS Using Bioinformatics to Investigate DNA Sequences......Page 441
PROKARYOTIC GENOMES......Page 443
A LIVING BACTERIUM WITH A CHEMICALLY SYNTHESIZED GENOME......Page 444
THE GENOMES OF CHLOROPLASTS AND MITOCHONDRIA......Page 445
EUKARYOTIC GENOMES......Page 448
GENOME EVOLUTION IN THE CEREAL GRASSES......Page 450
GENOME EVOLUTION IN MAMMALS......Page 451
Gene Therapy Improves Sight in Child with Congenital Blindness......Page 458
HUNTINGTON’S DISEASE......Page 459
FOCUS ON Fragile X Syndrome and Expanded Trinucleotide Repeats......Page 462
CYSTIC FIBROSIS......Page 464
Molecular Diagnosis of Human Diseases......Page 467
Human Gene Therapy......Page 469
DNA Profiling......Page 474
FORENSIC APPLICATIONS......Page 478
HUMAN GROWTH HORMONE......Page 480
PROTEINS WITH INDUSTRIAL APPLICATIONS......Page 481
TRANSGENIC ANIMALS: MICROINJECTION OF DNA INTO FERTILIZED EGGS AND TRANSFECTION OF EMBRYONIC STEM CELLS......Page 482
TRANSGENIC PLANTS: THE TI PLASMID OF AGROBACTERIUM TUMEFACIENS......Page 483
KNOCKOUT MUTATIONS IN THE MOUSE......Page 486
T-DNA AND TRANSPOSON INSERTIONS......Page 488
SOLVE IT How Might RNA Interference Be Used to Treat Burkitt’s Lymphoma?......Page 490
Maize: A Staple Crop with a Cultural Heritage......Page 496
Transposable Elements: An Overview......Page 497
IS ELEMENTS......Page 498
THE Tn3 ELEMENT......Page 500
Ac AND Ds ELEMENTS IN MAIZE......Page 502
P ELEMENTS AND HYBRID DYSGENESIS IN DROSOPHILA......Page 504
PROBLEM-SOLVING SKILLS Analyzing Transposon Activity in Maize......Page 505
ON THE CUTTING EDGE Small RNAs Repress P Element Activity......Page 506
RETROVIRUSES......Page 507
RETROVIRUSLIKE ELEMENTS......Page 511
RETROPOSONS......Page 512
Transposable Elements in Humans......Page 513
GENETIC TRANSFORMATION WITH TRANSPOSONS......Page 515
TRANSPOSONS AND GENOME ORGANIZATION......Page 517
D’Hérelle’s Dream of Treating Dysentery in Humans by Phage Therapy......Page 523
Constitutive, Inducible, and Repressible Gene Expression......Page 525
Positive and Negative Control of Gene Expression......Page 526
Operons: Coordinately Regulated Units of Gene Expression......Page 528
The Lactose Operon in E. coli: Induction and Catabolite Repression......Page 530
SOLVE IT Constitutive Mutations in the E. coli lac Operon......Page 532
CATABOLITE REPRESSION......Page 533
PROBLEM SOLVING SKILLS Testing Your Understanding of the lac Operon......Page 535
PROTEIN-DNA INTERACTIONS THAT CONTROL TRANSCRIPTION OF THE LAC OPERON......Page 536
REPRESSION......Page 538
ATTENUATION......Page 539
SOLVE IT Regulation of the Histidine Operon of Salmonella typhimurium......Page 541
ON THE CUTTING EDGE The Lysine Riboswitch......Page 543
Translational Control of Gene Expression......Page 544
Posttranslational Regulatory Mechanisms......Page 545
African Trypanosomes: A Wardrobe of Molecular Disguises......Page 550
CONTROLLED TRANSCRIPTION OF DNA......Page 551
CYTOPLASMIC CONTROL OF MESSENGER RNA STABILITY......Page 552
Induction of Transcriptional Activity by Environmental and Biological Factors......Page 553
SIGNAL MOLECULES: GENES THAT RESPOND TO HORMONES......Page 554
DNA SEQUENCES INVOLVED IN THE CONTROL OF TRANSCRIPTION......Page 556
PROTEINS INVOLVED IN THE CONTROL OF TRANSCRIPTION: TRANSCRIPTION FACTORS......Page 557
PROBLEM-SOLVING SKILLS Defining the Sequences Required for a Gene’s Expression......Page 558
RNAi PATHWAYS......Page 560
SOURCES OF SHORT INTERFERING RNAs AND MicroRNAs......Page 562
Gene Expression and Chromatin Organization......Page 563
MOLECULAR ORGANIZATION OF TRANSCRIPTIONALLY ACTIVE DNA......Page 564
CHROMATIN REMODELING......Page 565
DNA METHYLATION......Page 566
IMPRINTING......Page 567
ON THE CUTTING EDGE The Epigenetics of Twins......Page 568
Activation and Inactivation of Whole Chromosomes......Page 569
INACTIVATION OF X CHROMOSOMES IN MAMMALS......Page 570
HYPERACTIVATION OF X CHROMOSOMES IN DROSOPHILA......Page 571
HYPOACTIVATION OF X CHROMOSOMES IN CAENORHABDITIS......Page 572
Stem-Cell Therapy......Page 577
A Genetic Perspective on Development......Page 578
MATERNAL-EFFECT GENES......Page 580
DETERMINATION OF THE DORSAL–VENTRAL AND ANTERIOR–POSTERIOR AXES......Page 581
BODY SEGMENTATION......Page 584
ORGAN FORMATION......Page 586
SOLVE IT Cave Blindness......Page 588
VERTEBRATE HOMOLOGUES OF INVERTEBRATE GENES......Page 590
THE MOUSE: RANDOM INSERTION MUTATIONS AND GENE-SPECIFIC KNOCKOUT MUTATIONS......Page 591
STUDIES WITH MAMMALIAN STEM CELLS......Page 592
REPRODUCTIVE CLONING......Page 593
GENETIC CHANGES IN THE DIFFERENTIATION OF VERTEBRATE IMMUNE CELLS......Page 594
A Molecular Family Connection......Page 600
THE MANY FORMS OF CANCER......Page 601
CANCER AND THE CELL CYCLE......Page 602
A GENETIC BASIS FOR CANCER......Page 603
TUMOR-INDUCING RETROVIRUSES AND VIRAL ONCOGENES......Page 604
CELLULAR HOMOLOGUES OF VIRAL ONCOGENES: THE PROTO-ONCOGENES......Page 605
MUTANT CELLULAR ONCOGENES AND CANCER......Page 606
CHROMOSOME REARRANGEMENTS AND CANCER......Page 608
INHERITED CANCERS AND KNUDSON’S TWO-HIT HYPOTHESIS......Page 609
pRB......Page 612
SOLVE IT Downstream of p53......Page 614
pAPC......Page 616
phMSH2......Page 617
pBRCA1 and pBRCA2......Page 618
Genetic Pathways to Cancer......Page 619
Cardiovascular Disease: A Combination of Genetic and Environmental Factors......Page 626
MULTIPLE GENES INFLUENCE QUANTITATIVE TRAITS......Page 627
THRESHOLD TRAITS......Page 629
FREQUENCY DISTRIBUTIONS......Page 630
THE VARIANCE AND THE STANDARD DEVIATION......Page 631
Analysis of Quantitative Traits......Page 632
PARTITIONING THE PHENOTYPIC VARIANCE......Page 633
BROAD-SENSE HERITABILITY......Page 634
NARROW-SENSE HERITABILITY......Page 635
PREDICTING PHENOTYPES......Page 636
ARTIFICIAL SELECTION......Page 637
FOCUS ON Artificial Selection......Page 638
QUANTITATIVE TRAIT LOCI......Page 639
PROBLEM-SOLVING SKILLS Detecting Dominance at a QTL......Page 642
Correlations Between Relatives......Page 643
CORRELATING QUANTITATIVE PHENOTYPES BETWEEN RELATIVES......Page 644
INTERPRETING CORRELATIONS BETWEEN RELATIVES......Page 645
INTELLIGENCE......Page 647
PERSONALITY......Page 648
A Remote Colony......Page 653
ESTIMATING ALLELE FREQUENCIES......Page 654
APPLICATIONS OF THE HARDY–WEINBERG PRINCIPLE......Page 655
EXCEPTIONS TO THE HARDY–WEINBERG PRINCIPLE......Page 657
SOLVE IT The Effects of Inbreeding on Hardy-Weinberg Frequencies......Page 658
USING ALLELE FREQUENCIES IN GENETIC COUNSELING......Page 659
THE CONCEPT OF FITNESS......Page 660
NATURAL SELECTION AT THE LEVEL OF THE GENE......Page 661
SOLVE IT Selection Against a Harmful Recessive Allele......Page 662
RANDOM CHANGES IN ALLELE FREQUENCIES......Page 664
THE EFFECTS OF POPULATION SIZE......Page 665
Populations in Genetic Equilibrium......Page 666
BALANCING SELECTION......Page 667
MUTATION-SELECTION BALANCE......Page 668
MUTATION-DRIFT BALANCE......Page 669
D’ou venons nous? Que sommes nous? Ou allons nous?......Page 675
DARWIN’S THEORY OF EVOLUTION......Page 676
EVOLUTIONARY GENETICS......Page 677
VARIATION IN PHENOTYPES......Page 678
VARIATION IN CHROMOSOME STRUCTURE......Page 679
VARIATION IN NUCLEOTIDE SEQUENCES......Page 680
Molecular Evolution......Page 681
MOLECULES AS “DOCUMENTS OF EVOLUTIONARY HISTORY”......Page 682
RATES OF MOLECULAR EVOLUTION......Page 683
PROBLEM-SOLVING SKILLS Using Mitochondrial DNA to Establish a Phylogeny......Page 684
VARIATION IN THE EVOLUTION OF PROTEIN SEQUENCES......Page 686
VARIATION IN THE EVOLUTION OF DNA SEQUENCES......Page 687
THE NEUTRAL THEORY OF MOLECULAR EVOLUTION......Page 688
MOLECULAR EVOLUTION AND PHENOTYPIC EVOLUTION......Page 689
WHAT IS A SPECIES?......Page 691
MODES OF SPECIATION......Page 693
HUMAN EVOLUTION IN THE FOSSIL RECORD......Page 695
DNA SEQUENCE VARIATION AND HUMAN ORIGINS......Page 696
Appendix A: The Rules of Probability......Page 704
Appendix B: Binomial Probabilities......Page 706
Appendix C: In Situ Hybridization......Page 708
Appendix D: Evidence for an Unstable Messenger RNA......Page 710
Appendix E: Evolutionary Rates......Page 712
Answers to Odd-Numbered Questions and Problems......Page 716
Glossary......Page 739
Photo Credits......Page 762
Illustration Credits......Page 764
Index......Page 765